Virgone Calogero, Decker Emily, Mitton Sally G, Mansour Sahar, Giuliani Stefano
Department of Paediatric and Neonatal Surgery, St George's Healthcare NHS Trust and University of London, London, UK.
Department of Paediatric Gastroenterology, St. George's Healthcare NHS Trust and University of London, London, UK.
Pediatr Int. 2016 Apr;58(4):298-300. doi: 10.1111/ped.12772. Epub 2015 Nov 16.
Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (MIM 109 400), is a rare genetic condition with a prevalence between 1/56 000 and 1/256 000. Clinical presentation is usually characterized by multiple basal cell carcinomas, odontogenic jaw keratocysts, palmar or plantar pitting and skeletal anomalies. It is furthermore associated with the development of various tumors beside basal cell carcinoma, among which medulloblastoma is the most frequent. Increased incidence of other mesenchymal neoplasms, however, is also well known: recently the first adult case of gastric leiomyoma in GGS was reported, and the inclusion of "fibromas and leiomyomas of other organs" in the minor criteria for the diagnosis was suggested. We report the first case of a pediatric patient with GGS who also developed a gastric leiomyoma: the present case illustrates the need for this change to the diagnostic criteria to encompass the highly variable presentations and phenotype in GGS.
戈林-戈尔茨综合征（GGS），也称为痣样基底细胞癌综合征（MIM 109400），是一种罕见的遗传性疾病，患病率在1/56000至1/256000之间。临床表现通常以多发性基底细胞癌、牙源性颌骨角化囊肿、手掌或足底凹陷以及骨骼异常为特征。此外，它还与除基底细胞癌之外的各种肿瘤的发生有关，其中髓母细胞瘤最为常见。然而，其他间质性肿瘤的发病率增加也广为人知：最近报道了首例GGS成年患者发生胃平滑肌瘤的病例，并建议在诊断的次要标准中纳入“其他器官的纤维瘤和平滑肌瘤”。我们报告了首例患有GGS且同时发生胃平滑肌瘤的儿科患者：本病例说明了改变诊断标准以涵盖GGS中高度可变的表现和表型的必要性。
